Canonical Allele Identifier: CA383970675

Gene: CDKN1B

Linked Data

• dbSNP Id: rs2136356477
• gnomAD v4: 12-12718254-G-T
• MyVariant Identifiers: chr12:g.12871188G>T (hg19) ; chr12:g.12718254G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718254G>T , CM000674.2:g.12718254G>T	GRCh38
NC_000012.11:g.12871188G>T , CM000674.1:g.12871188G>T	GRCh37
NC_000012.10:g.12762455G>T	NCBI36
NG_016341.1:g.5887G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.415G>T	ENSP00000507272.1:p.Asp139Tyr
ENST00000682620.1:n.1631-571G>T
ENST00000684771.1:n.585-571G>T
ENST00000228872.9:c.415G>T MANE Select	ENSP00000228872.4:p.Asp139Tyr
ENST00000228872.8:c.415G>T	ENSP00000228872.4:p.Asp139Tyr
ENST00000396340.1:c.415G>T	ENSP00000379629.1:p.Asp139Tyr
ENST00000442489.1:c.193+201G>T	ENSP00000407597.1:n.193+201G>T
ENST00000477087.1:n.155-571G>T
NM_004064.4:c.415G>T	NP_004055.1:p.Asp139Tyr
NM_004064.5:c.415G>T MANE Select	NP_004055.1:p.Asp139Tyr